Details for NLRP12:c.1854C>A, p.Tyr618Ter

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
5431305953809805
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NLRP12
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_001277126.2
CDNA CHANGE c.1854C>A
PROTEIN CHANGE p.Tyr618Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.789406Disease causing
DBSNP ID NA
1 combination linked to NLRP12:c.1854C>A, p.Tyr618Ter OLI1760
1 disease linked to NLRP12:c.1854C>A, p.Tyr618Ter Autoinflammatory syndrome
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